Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48520674del , CM000677.2:g.48520674del | GRCh38 |
| NC_000015.9:g.48812871del , CM000677.1:g.48812871del | GRCh37 |
| NC_000015.8:g.46600163del | NCBI36 |
| NG_008805.2:g.130117del , LRG_778:g.130117del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.1134del | ENSP00000453958.2:p.Ile379SerfsTer16 | |
| ENST00000674301.2:c.1134del | ENSP00000501333.2:p.Ile379SerfsTer16 | |
| ENST00000316623.10:c.1134del MANE Select | ENSP00000325527.5:p.Ile379SerfsTer16 | |
| ENST00000316623.9:c.1134del | ENSP00000325527.5:p.Ile379SerfsTer16 | |
| ENST00000537463.6:c.636+17039del | ENSP00000440294.2:n.636+17039del | |
| NM_000138.4:c.1134del , LRG_778t1:c.1134del | NP_000129.3:p.Ile379SerfsTer16 | |
| NM_000138.5:c.1134del MANE Select | NP_000129.3:p.Ile379SerfsTer16 |